rs151340622
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs151340622(G;G) |
Make rs151340622(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 50081723 |
Gene | CLCN5 |
is a | snp |
is | mentioned by |
dbSNP | rs151340622 |
dbSNP (classic) | rs151340622 |
ClinGen | rs151340622 |
ebi | rs151340622 |
HLI | rs151340622 |
Exac | rs151340622 |
Gnomad | rs151340622 |
Varsome | rs151340622 |
LitVar | rs151340622 |
Map | rs151340622 |
PheGenI | rs151340622 |
Biobank | rs151340622 |
1000 genomes | rs151340622 |
hgdp | rs151340622 |
ensembl | rs151340622 |
geneview | rs151340622 |
scholar | rs151340622 |
rs151340622 | |
pharmgkb | rs151340622 |
gwascentral | rs151340622 |
openSNP | rs151340622 |
23andMe | rs151340622 |
SNPshot | rs151340622 |
SNPdbe | rs151340622 |
MSV3d | rs151340622 |
GWAS Ctlg | rs151340622 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151340622(G;G) |
Alt | rs151340622(G;G) |
Reference | Rs151340622(T;T) |
Significance | Pathogenic |
Disease | Dent disease 1 |
Variation | info |
Gene | CLCN5 |
CLNDBN | Dent disease 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.49846380T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012566.14, |